Genetic Counseling/ Testing/ Therapy

Contributing journals to this collection:
JAMA & Archives Journals

Citations 571-580 of 718 total displayed.

Past content

Original Articles
Connexin 26 Gene Mutations in Congenitally Deaf Children: Pitfalls for Genetic Counseling

Sandrine Marlin; Éréa-Noël Garabédian; Gilles Roger; Lucien Moatti; Nicole Matha; Patricia Lewin; Christine Petit; Françoise Denoyelle
Arch Otolaryngol Head Neck Surg 2001; 127: 927-933. [Abstract] [Full text] [PDF]  

Original Articles
Pediatric Otolaryngologists' Knowledge and Understanding of Genetic Testing for Deafness

Nathaniel H. Robin; Christin Dietz; James E. Arnold; Richard J. H. Smith
Arch Otolaryngol Head Neck Surg 2001; 127: 937-940. [Abstract] [Full text] [PDF]  

Original Articles
Clinical Experience With HLA-B7 Plasmid DNA/Lipid Complex in Advanced Squamous Cell Carcinoma of the Head and Neck

Lyon L. Gleich; Jack L. Gluckman; John Nemunaitis; James Y. Suen; Ehab Hanna; Gregory T. Wolf; Marc D. Coltrera; Douglas B. Villaret; Lawrence Wagman; Dan Castro; Markus Gapany; William Carroll; Deirdre Gillespie; Linda M. Selk
Arch Otolaryngol Head Neck Surg 2001; 127: 775-779. [Abstract] [Full text] [PDF]  

Laboratory Sciences
Combined Effect of Cyclosporine and Sirolimus on Improving the Longevity of Recombinant Adenovirus–Mediated Transgene Expression in the Retina

Wei-Yong Shen; May C. Lai; John Beilby; Nigel L. Barnett; Jie Liu; Ian J. Constable; Piroska E. Rakoczy
Arch Ophthalmol 2001; 119: 1033-1043. [Abstract] [Full text] [PDF]  

Ophthalmic Molecular Genetics
A Novel Gly35Ser Mutation in the RDH5 Gene in a Japanese Family With Fundus Albipunctatus Associated With Cone Dystrophy

Yuko Wada; Toshiaki Abe; Hajime Sato; Makoto Tamai
Arch Ophthalmol 2001; 119: 1059-1063. [Abstract] [Full text] [PDF]  

Brief Reports
Preimplantation Diagnosis for Fanconi Anemia Combined With HLA Matching

Yury Verlinsky; Svetlana Rechitsky; William Schoolcraft; Charles Strom; Anver Kuliev
JAMA 2001; 285: 3130-3133. [Abstract] [Full text] [PDF]  

Contempo Updates
Influential Ideas and Experimental Progress in Schizophrenia Genetics Research

Alan R. Sanders; Pablo V. Gejman
JAMA 2001; 285: 2831-2833. [Extract] [Full text] [PDF]  

Clinical Notes
Long-term Audiological Feature in Pendred Syndrome Caused by PDS Mutation

Satoshi Iwasaki; Shin-ichi Usami; Satoko Abe; Haruo Isoda; Takahiro Watanabe; Tomoyuki Hoshino
Arch Otolaryngol Head Neck Surg 2001; 127: 705-708. [Abstract] [Full text] [PDF]  

Original Contributions
Autopsy-Confirmed Familial Early-Onset Alzheimer Disease Caused by the L153V Presenilin 1 Mutation

John C. Janssen; Peter L. Lantos; Nicholas C. Fox; Richard J. Harvey; Jonathan Beck; Andrew Dickinson; Tracey A. Campbell; John Collinge; Diane P. Hanger; Lisa Cipolotti; John M. Stevens; Martin N. Rossor
Arch Neurol 2001; 58: 953-958. [Abstract] [Full text] [PDF]  

Original Contributions
Mutation Analysis and the Correlation Between Genotype and Phenotype of Arg778Leu Mutation in Chinese Patients With Wilson Disease

Zhi-Ying Wu; Ning Wang; Min-Ting Lin; Ling Fang; Shen-Xing Murong; Long Yu
Arch Neurol 2001; 58: 971-976. [Abstract] [Full text] [PDF]  

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